A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642126



Internal ID6682207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31423275..31424215hg38UCSC Ensembl
Innerchr18:31423275..31424215hg38UCSC Ensembl
Outerchr18:31422817..31424505hg38UCSC Ensembl
chr18:29003238..29004178hg19UCSC Ensembl
Innerchr18:29003238..29004178hg19UCSC Ensembl
Outerchr18:29002780..29004468hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38941
hg19941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15836678, essv15836671, essv15836677, essv15836674, essv15836670, essv15836673, essv15836676, essv15836675, essv15836672
SamplesHG02107, HG03279, HG03295, HG03548, NA19096, NA18907, HG02561, HG03240, HG02679
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642126
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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